Autoimmune polyglandular syndrome type 1

Also known as: APECED; APS-1; Whitaker syndrome

Triad of chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Autoimmune endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, early childhood
Gene(s) involved: AIRE

Etiology & mechanism

AIRE loss impairs central immune tolerance.

Gene(s) involved (1)

AIRE

Symptoms & signs (10)

adrenal insufficiencyalopeciachronic mucocutaneous candidiasisenamel hypoplasiahepatitishypogonadismhypoparathyroidismmalabsorptionpernicious anemiavitiligo

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.